An Illinois family is racing to raise money for a breakthrough enzyme therapy that could extend the lives of their two children after both were diagnosed with Sanfilippo syndrome, a terminal genetic disorder that causes dementia-like regression.
At a Glance
- Poppy, 9, and Oliver, 2, have Sanfilippo syndrome type B, known as “childhood dementia”
- The disorder causes waste buildup in cells, leading to cognitive and physical decline
- A new enzyme therapy could be available through an FDA expanded-access program
- Why it matters: Treatment must begin before permanent damage occurs
Megan Kempf, 37, first noticed something was wrong when daughter Poppy was 3 and her drawing skills began to regress. Initially diagnosed with a mild intellectual disability and sleep apnea, Poppy’s condition worsened until a neurologist ordered further testing.
In summer 2025, the family received devastating news: Poppy had Sanfilippo syndrome type B. The genetic disorder leaves children without a crucial enzyme to break down cellular waste, which accumulates and damages the central nervous system.
“Life is taken away from these children before they even have a chance to live it,” Kempf told News Of Los Angeles.
The Quiet Loss
Sanfilippo syndrome primarily affects the brain, causing cognitive decline, behavioral issues, and physical deterioration. The condition earned its “childhood dementia” nickname because children progressively lose abilities they once had.
Poppy’s regression has been gradual but relentless:
- She no longer helps in the kitchen or dresses her dolls
- She can’t play in the pool or assist her father in the yard
- Her impulse control has disappeared
- She can no longer write with a pencil or say “I love you”
“This time last year, she would smile for a photo. Now I’m lucky to catch her at a smiling moment,” Kempf said.
A Ray of Hope
While there’s no cure, a breakthrough enzyme replacement therapy offers hope for extending life expectancy. The treatment provides the missing enzyme that Sanfilippo patients lack, potentially slowing disease progression.
The catch: the therapy isn’t expected to be widely available until 2027. Through an FDA expanded-access program, families can seek early access for terminal patients when no satisfactory alternatives exist.
Kempf’s mission intensified when toddler Oliver also tested positive for the disorder. At 2 years old, he’s “quickly approaching the critical window” when symptoms typically emerge between ages 3 and 4.
“No one would expect that anything is wrong with him, let alone that he’s already battling a terminal illness,” Kempf said.
The Fundraising Reality
The family joined other affected families to raise money for expanded access to the enzyme therapy. However, fundraising doesn’t guarantee treatment access.
“Parents didn’t fundraise because access was guaranteed – we fundraised just to make access possible. No one knows who or how many will get in,” Kempf explained.
Poppy’s condition makes the urgency even greater. At 9 years old, she’s already exceeded expectations for Sanfilippo patients with type B. Many children her age with the condition require feeding tubes, are nonverbal, and cannot walk.
“When we were diagnosed just this past summer, we were met with surprise that she was still walking and talking,” Kempf recalled.
Living on Borrowed Time
The disease’s progression accelerates as waste buildup in cells increases. Poppy has been “living on borrowed time for six years,” according to her mother.
“Life is harder every day for her. We refuse to have her abilities taken away without a fight, but her body is hard at work against her,” Kempf said.
The family documents their journey on social media platforms, advocating for awareness and treatment access. Their approach combines hope with determination.
“We pray boldly, and then we work like it matters – because we believe every day is worth fighting for,” Kempf said. “We have our eyes on what’s ahead. We will not sit still. We will fight for answers.”
Key Takeaways
- Sanfilippo syndrome type B affects approximately 1 in 70,000 births
- The enzyme therapy could potentially slow or halt progression if started early enough
- Expanded access programs require significant fundraising and don’t guarantee treatment
- Early intervention is crucial before permanent neurological damage occurs
